AMS
MCID: ABL002
MIFTS: 50

Ablepharon-Macrostomia Syndrome (AMS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Ablepharon-Macrostomia Syndrome

MalaCards integrated aliases for Ablepharon-Macrostomia Syndrome:

Name: Ablepharon-Macrostomia Syndrome 57 73 36 39 71
Ablepharon Macrostomia Syndrome 12 74 20 58 29 6 44 15
Ams 57 20 73
Eye Abnormalities 44 71
Congenital Ablepharon, Absent Eyelashes/eyebrows, Macrostomia, Auricular, Nasal, Genital and Other Systemic Anomalies 20
Macrostomia 44

Characteristics:

Orphanet epidemiological data:

58
ablepharon macrostomia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
overlapping features with barber-say syndrome


HPO:

31
ablepharon-macrostomia syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Ablepharon-Macrostomia Syndrome

GARD : 20 Ablepharon macrostomia syndrome is genetic disorder characterized by absent eyelids (ablepharon) and very large mouth (macrostomia). Other common signs and symptoms include abnormal external ears, fusion (syndactyly) of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations, and developmental delay. Other reported findings include underdeveloped cheeks (malar hypoplasia), absent or very small (hypoplastic) nipples, umbilical abnormalities and growth retardation. It belongs to a group of diseases called ectodermal dysplasias (genetic disorders that involve defects in the skin, hair, nails, sweat glands, and/or teeth). Ablepharon macrostomia syndrome is caused by mutations in the TWIST2 gene. Inheritance is autosomal dominant, but most cases are sporadic (when there are no other cases in the family). Treatment is aimed toward correcting the problems that are present. Mutations in TWIST2 gene also cause the Barber Say syndrome and Setleis syndrome, other ectodermal dysplasia syndromes which have very similar features.

MalaCards based summary : Ablepharon-Macrostomia Syndrome, also known as ablepharon macrostomia syndrome, is related to apert syndrome and lowe oculocerebrorenal syndrome, and has symptoms including dry skin and eye manifestations. An important gene associated with Ablepharon-Macrostomia Syndrome is TWIST2 (Twist Family BHLH Transcription Factor 2), and among its related pathways/superpathways are O-linked glycosylation and Mannose type O-glycan biosynthesis. The drugs Osimertinib and Tyrosine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are delayed speech and language development and microtia

Disease Ontology : 12 A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has material basis in heterozygous mutation in the TWIST2 gene on chromosome 2q37.

OMIM® : 57 Ablepharon-macrostomia syndrome is a congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth (summary by Marchegiani et al., 2015). (200110) (Updated 05-Mar-2021)

KEGG : 36 Ablepharon-macrostomia syndrome (AMS) is a rare autosomal dominant condition characterized by absent eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. It has been reported that AMS is due to mutations in TWIST2.

UniProtKB/Swiss-Prot : 73 Ablepharon-macrostomia syndrome: A congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth.

Wikipedia : 74 Ablepharon macrostomia syndrome (AMS) is an extremely rare, autosomal dominant genetic disorder... more...

Related Diseases for Ablepharon-Macrostomia Syndrome

Diseases related to Ablepharon-Macrostomia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 388)
# Related Disease Score Top Affiliating Genes
1 apert syndrome 31.3 TWIST2 CFAP47
2 lowe oculocerebrorenal syndrome 31.3 OCRL CFAP47
3 barber-say syndrome 31.0 TWIST2 CFAP47
4 ectropion 30.6 TWIST2 PAX6
5 walker-warburg syndrome 30.3 POMT1 POMGNT1 LARGE1 FKTN FKRP
6 muscular dystrophy-dystroglycanopathy , type a, 4 29.8 POMT1 POMGNT1 LARGE1 FKTN FKRP
7 peters-plus syndrome 29.2 POMT1 POMGNT1 PAX6 LARGE1
8 muscular dystrophy, congenital, lmna-related 28.8 POMT1 POMGNT1 FKTN FKRP
9 lissencephaly 28.4 POMT1 POMGNT1 LARGE1 FKTN FKRP
10 muscle eye brain disease 28.4 POMT1 POMGNT1 LARGE1 FKTN FKRP
11 muscular dystrophy 28.3 POMT1 POMGNT1 LARGE1 FKTN FKRP
12 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 11.4
13 phace association 11.3
14 mandibulofacial dysostosis with macroblepharon and macrostomia 11.3
15 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 11.2
16 stickler syndrome 11.2
17 alport syndrome 11.1
18 acute mountain sickness 11.1
19 walker dyson syndrome 11.1
20 cardiofaciocutaneous syndrome 3 11.0
21 mental retardation and distinctive facial features with or without cardiac defects 11.0
22 simpson-golabi-behmel syndrome 11.0
23 x-linked chondrodysplasia punctata 2 11.0
24 pierson syndrome 11.0
25 incontinentia pigmenti 10.9
26 macrostomia-preauricular tags-external ophthalmoplegia syndrome 10.9
27 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 10.9
28 gillespie syndrome 10.9
29 central hypoventilation syndrome, congenital 10.9
30 boucher-neuhauser syndrome 10.9
31 kaufman oculocerebrofacial syndrome 10.9
32 mucolipidosis iv 10.9
33 knobloch syndrome 1 10.9
34 aicardi syndrome 10.9
35 congenital disorder of glycosylation, type iik 10.9
36 desanto-shinawi syndrome 10.9
37 mosaic variegated aneuploidy syndrome 10.9
38 autosomal dominant alport syndrome 10.9
39 autosomal recessive alport syndrome 10.9
40 leber plus disease 10.9
41 graves' disease 10.9
42 treacher collins syndrome 1 10.9
43 fryns syndrome 10.9
44 lambert syndrome 10.9
45 alazami syndrome 10.9
46 microphthalmia 10.9
47 macrostomia, isolated 10.8
48 smith-magenis syndrome 10.8
49 anterior segment dysgenesis 10.8
50 knobloch syndrome 10.8

Graphical network of the top 20 diseases related to Ablepharon-Macrostomia Syndrome:



Diseases related to Ablepharon-Macrostomia Syndrome

Symptoms & Phenotypes for Ablepharon-Macrostomia Syndrome

Human phenotypes related to Ablepharon-Macrostomia Syndrome:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
2 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
3 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
4 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
5 fine hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002213
6 redundant skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001582
7 underdeveloped nasal alae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000430
8 absent eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000561
9 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
10 absent eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002223
11 ablepharon 58 31 hallmark (90%) Very frequent (99-80%) HP:0011224
12 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
13 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
14 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
15 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
16 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
17 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
18 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
19 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
20 aplasia/hypoplasia of the nipples 58 31 frequent (33%) Frequent (79-30%) HP:0006709
21 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
22 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
23 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
24 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
25 ambiguous genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000062
26 abnormality of female external genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000055
27 cryptophthalmos 58 31 frequent (33%) Frequent (79-30%) HP:0001126
28 excessive wrinkled skin 58 31 frequent (33%) Frequent (79-30%) HP:0007392
29 thin skin 58 31 frequent (33%) Frequent (79-30%) HP:0000963
30 breast hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0003187
31 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
32 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
33 thin vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0000233
34 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
35 atresia of the external auditory canal 58 31 occasional (7.5%) Occasional (29-5%) HP:0000413
36 abnormal hair pattern 58 31 occasional (7.5%) Occasional (29-5%) HP:0010720
37 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
38 abnormality of skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001000
39 corneal erosion 58 31 occasional (7.5%) Occasional (29-5%) HP:0200020
40 talipes equinovarus 31 occasional (7.5%) HP:0001762
41 short metacarpal 31 occasional (7.5%) HP:0010049
42 short upper lip 31 occasional (7.5%) HP:0000188
43 hypertelorism 31 HP:0000316
44 abnormal nasal morphology 31 HP:0005105
45 microtia, third degree 31 HP:0011267
46 ventral hernia 31 HP:0002933

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
hypertelorism
cryptophthalmos
ablepharon (absent eyelids)
microblepharon
eyebrows absent
more
Genitourinary External Genitalia Male:
ambiguous genitalia

Abdomen External Features:
ventral hernia

Head And Neck Face:
zygomatic arches absent

Head And Neck Nose:
shape abnormal
deficiency of lateral alae nasi (in some patient)

Skeletal Hands:
syndactyly of fingers, variable (in some patients)
shortening of metacarpals, variable (in some patients)
fifth-finger camptodactyly (in some patients)

Skin Nails Hair Hair:
lanugo absent

Skin Nails Hair Skin:
dry skin
coarse skin
redundant folds

Genitourinary External Genitalia Female:
ambiguous genitalia

Head And Neck Mouth:
macrostomia
short upper lip (in some patients)
bilateral deficiency of lateral lower lip (in some patients)
unfused labial commissures (in some patients)
absent gingiva (in some patients)

Head And Neck Ears:
external ears rudimentary

Chest Breasts:
nipples absent or rudimentary

Skeletal Feet:
syndactyly of toes, variable (in some patients)
clubfeet (in some patients)

Neurologic Central Nervous System:
language delayed

Clinical features from OMIM®:

200110 (Updated 05-Mar-2021)

UMLS symptoms related to Ablepharon-Macrostomia Syndrome:


dry skin, eye manifestations

MGI Mouse Phenotypes related to Ablepharon-Macrostomia Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.95 FKRP FKTN LARGE1 PAX6 POMGNT1 POMT1
2 mortality/aging MP:0010768 9.86 FKRP FKTN LARGE1 OCRL PAX6 POMGNT1
3 cardiovascular system MP:0005385 9.85 FKRP LARGE1 PAX6 POMGNT1 POMT1 TWIST2
4 craniofacial MP:0005382 9.72 FKRP LARGE1 PAX6 POMGNT1 TWIST2
5 muscle MP:0005369 9.7 FKRP FKTN LARGE1 PAX6 POMGNT1 POMT1
6 nervous system MP:0003631 9.5 FKRP FKTN LARGE1 PAX6 POMGNT1 POMT1
7 vision/eye MP:0005391 9.17 FKRP LARGE1 OCRL PAX6 POMGNT1 POMT1

Drugs & Therapeutics for Ablepharon-Macrostomia Syndrome

Drugs for Ablepharon-Macrostomia Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Osimertinib Approved Phase 3 1421373-65-0 71496458
2
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
3
Cysteine Approved, Nutraceutical Phase 2, Phase 3 52-90-4 5862
4 Protein Kinase Inhibitors Phase 3
5 Mitogens Phase 3
6
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
7
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570
8 Nutrients
9 Micronutrients
10 Vitamin B Complex
11 Trace Elements
12 Vitamin B2
13 Vitamins
14 Folate
15 Vitamin B9
16 Dermatologic Agents
17 Photosensitizing Agents

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Open Label, Multinational, Multicenter, Real World Treatment Study of Single Agent AZD9291 for Patients With Advanced/Metastatic Epidermal Growth Factor Receptor (EGFR) T790M Mutation-Positive Non-Small Cell Lung Cancer (NSCLC) Who Have Received Prior Therapy With an EGFR Tyrosine Kinase Inhibitor (EGFR-TKI) Completed NCT02474355 Phase 3 AZD9291 Dosing
2 Detect EGFR T790M Mutation in ctDNA of Chinese Advanced/Metastatic NSCLC Patients by Cobas, Super-ARMS, Digital PCR and NGS and Evaluate Clinical Outcomes of T790M Mutation Positive Patients Who Had AZD9291 Monotherapy Completed NCT02997501 Phase 3 AZD9291 Dosing
3 Double-masked, Randomized, Controlled, Multiple-dose Study to Evaluate Efficacy, Safety, Tolerability and Syst. Exposure of QR-110 in Leber's Congenital Amaurosis (LCA) Due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Active, not recruiting NCT03913143 Phase 2, Phase 3 sepofarsen
4 Open-Label, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Efficacy of EDIT-101 in Adult and Pediatric Participants With Leber Congenital Amaurosis Type 10 (LCA10), With Centrosomal Protein 290 (CEP290)-Related Retinal Degeneration Caused by a Compound Heterozygous or Homozygous Mutation Involving c.2991+1655A>G in Intron 26 (IVS26) of the CEP290 Gene ("LCA10-IVS26") Recruiting NCT03872479 Phase 1, Phase 2 EDIT-101
5 A First-in-Human Study to Evaluate the Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene Recruiting NCT03780257 Phase 1, Phase 2 QR-421a
6 An Open-Label, Extension Study to Evaluate the Safety, Tolerability, Efficacy and Pharmacokinetics of QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Active, not recruiting NCT03913130 Phase 1, Phase 2 QR-110
7 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
8 Stroke Vision: A Screening Tool for the Assessment of Visual Impairments in Stroke Survivors Unknown status NCT02539381
9 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527 Riboflavin
10 Epidemiological Profile of Ophthalmological Care in the Public Service in Brazil Completed NCT01740466
11 Independent Prescribing Optometrists in Acute Ophthalmic Services Completed NCT02585063
12 Anomalies of the Anterior Chamber, Angle, Iris, Cornea and Lens With or Without Glaucoma or Ocular Hypertension Completed NCT00001161
13 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
14 Transverse Facial Cleft (Macrostomia) Repair: Modification of a Traditional Technique Completed NCT03282721
15 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
16 Natural History Study of CEP290-Related Retinal Degeneration Recruiting NCT03396042
17 The International Cohort Study of Children Born to Women Infected With Zika Virus During Pregnancy Recruiting NCT04118738
18 Biomarker for Maroteaux-Lamy Disease: BioMaroteaux-Lamy AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01458613
19 Ocular Morphology and Visual Function in Relation to Growth, Metabolic, Cardiovascular, and Neuropsychiatric Status, and Quality of Life in Adolescents Born Moderate-to-late Preterm Enrolling by invitation NCT04190147

Search NIH Clinical Center for Ablepharon-Macrostomia Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Zinc Sulfate
ZINC SULFATE PWDR

Cochrane evidence based reviews: macrostomia

Genetic Tests for Ablepharon-Macrostomia Syndrome

Genetic tests related to Ablepharon-Macrostomia Syndrome:

# Genetic test Affiliating Genes
1 Ablepharon Macrostomia Syndrome 29 TWIST2

Anatomical Context for Ablepharon-Macrostomia Syndrome

MalaCards organs/tissues related to Ablepharon-Macrostomia Syndrome:

40
Skin, Eye, Bone, Breast

Publications for Ablepharon-Macrostomia Syndrome

Articles related to Ablepharon-Macrostomia Syndrome:

(show top 50) (show all 52)
# Title Authors PMID Year
1
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. 6 57 61
26119818 2015
2
Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome. 61 57 6
21595001 2011
3
Ablepharon-macrostomia syndrome in a 46-year-old woman. 57 6 61
15103726 2004
4
Ablepharon-macrostomia syndrome. 57 6 61
11807864 2002
5
Ablepharon-macrostomia syndrome: first report of familial occurrence. 57 6 61
11038439 2000
6
Congenital shortening of the anterior lamella of all eyelids: the so-called ablepharon macrostomia syndrome. 61 6 57
8746822 1995
7
Ablepharon-Macrostomia syndrome--extension of the phenotype. 61 57
22002929 2011
8
Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1. 57 61
17163535 2007
9
Barber-Say Syndrome: report of a new case. 61 57
9674915 1998
10
Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q. 61 57
8834257 1996
11
Ablepharon macrostomia syndrome. 57 61
2036354 1991
12
A new feature of the ablepharon macrostomia syndrome: zygomatic arch absence. 57 61
3293678 1988
13
Ablepharon macrostomia syndrome. 57 61
4003491 1985
14
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview. 61 20
27196381 2016
15
Ablepheron macrostomia syndrome. 57
913905 1977
16
Cryptophthalmos in two families from Bahia, Brazil. 57
4774831 1973
17
An optimized base editor with efficient C-to-T base editing in zebrafish. 61
33272268 2020
18
Ablepharon Macrostomia Syndrome: Rib Cartilage and Fat Grafting for Lower Lid Reconstruction. 61
33055564 2020
19
Long-Term Results of the Surgical Management of the Upper Eyelids in "Ablepharon"-Macrostomia Syndrome. 61
31373987 2020
20
Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome. 61
31462237 2019
21
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. 61
30450715 2018
22
Programmable base editing in zebrafish using a modified CRISPR-Cas9 system. 61
30076894 2018
23
Use of the Masquerade Flap in Ablepharon-Macrostomia Syndrome: A Case Report. 61
29538102 2018
24
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. 61
28663233 2017
25
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. 61
28690482 2017
26
A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting. 61
26600791 2015
27
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. 61
24115501 2013
28
Clinical variant of ablepharon macrostomia syndrome. 61
23198177 2011
29
A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient. 54
19607881 2009
30
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. 61
19760652 2009
31
OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability. 54
19390221 2009
32
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. 54
18385794 2008
33
A deletion 3' to the PAX6 gene in familial aniridia cases. 54
17679951 2007
34
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. 54
17436019 2007
35
Molecular analysis of a human PAX6 homeobox mutant. 54
16493447 2006
36
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. 54
16575835 2006
37
PAX6 mutations: genotype-phenotype correlations. 54
15918896 2005
38
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. 54
15792865 2005
39
The twisted abdomen phenotype of Drosophila POMT1 and POMT2 mutants coincides with their heterophilic protein O-mannosyltransferase activity. 54
15271988 2004
40
PAX6 and congenital eye malformations. 54
14561779 2003
41
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. 54
12966029 2003
42
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. 54
12634864 2003
43
Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities. 61
11746001 2001
44
3' deletions cause aniridia by preventing PAX6 gene expression. 54
11087823 2000
45
Familial occurrence of ablepharon macrostomia syndrome: eyelid structure and surgical considerations. 61
10721975 2000
46
Psychiatric disorder and cognitive function in a family with an inherited novel mutation of the developmental control gene PAX6. 54
10412187 1999
47
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. 54
9931324 1999
48
Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product? 54
9415682 1997
49
Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. 54
8689689 1996
50
Pax6: more than meets the eye. 54
7482776 1995

Variations for Ablepharon-Macrostomia Syndrome

ClinVar genetic disease variations for Ablepharon-Macrostomia Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TWIST2 NM_001271893.4(TWIST2):c.223G>A (p.Glu75Lys) SNV Pathogenic 208077 rs1553565140 2:239757079-239757079 2:238848438-238848438

UniProtKB/Swiss-Prot genetic disease variations for Ablepharon-Macrostomia Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 TWIST2 p.Glu75Lys VAR_074675 rs796065049

Expression for Ablepharon-Macrostomia Syndrome

Search GEO for disease gene expression data for Ablepharon-Macrostomia Syndrome.

Pathways for Ablepharon-Macrostomia Syndrome

Pathways related to Ablepharon-Macrostomia Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.39 POMT1 POMGNT1 LARGE1
2 10.38 POMT1 POMGNT1 LARGE1 FKTN FKRP

GO Terms for Ablepharon-Macrostomia Syndrome

Cellular components related to Ablepharon-Macrostomia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.46 POMGNT1 LARGE1 FKTN FKRP
2 Golgi apparatus GO:0005794 9.35 POMGNT1 OCRL LARGE1 FKTN FKRP
3 integral component of Golgi membrane GO:0030173 8.8 POMGNT1 LARGE1 FKTN

Biological processes related to Ablepharon-Macrostomia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.55 POMT1 POMGNT1 LARGE1 FKTN FKRP
2 glycoprotein biosynthetic process GO:0009101 9.26 LARGE1 FKRP
3 protein O-linked glycosylation GO:0006493 9.26 POMT1 POMGNT1 LARGE1 FKTN
4 protein O-linked mannosylation GO:0035269 8.92 POMT1 LARGE1 FKTN FKRP

Molecular functions related to Ablepharon-Macrostomia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.55 POMT1 POMGNT1 LARGE1 FKTN FKRP
2 manganese ion binding GO:0030145 9.26 POMGNT1 LARGE1
3 acetylglucosaminyltransferase activity GO:0008375 8.96 POMGNT1 LARGE1
4 transferase activity, transferring glycosyl groups GO:0016757 8.8 POMT1 POMGNT1 LARGE1

Sources for Ablepharon-Macrostomia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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